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Gene Review

CELSR1  -  cadherin, EGF LAG seven-pass G-type...

Homo sapiens

Synonyms: CDHF9, Cadherin EGF LAG seven-pass G-type receptor 1, Cadherin family member 9, FMI2, Flamingo homolog 2, ...
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Disease relevance of CELSR1


Psychiatry related information on CELSR1

  • No variant exclusively co-segregates with the disease in the large pedigree, providing evidence that CELSR1 is not causative for the pathogenesis of catatonic schizophrenia in this family [3].
  • Mom empowerment, too! (ME2): a program for young mothers involved in substance abuse [4].

High impact information on CELSR1

  • CONCLUSIONS: These results do not support previous evidence that genetic variation of the ME2 gene predisposes to common IGE syndromes [1].
  • RESULTS: Neither allele nor genotype frequencies of any ME2 polymorphism differed significantly between the controls and the IGE groups (p > 0.22) [1].
  • A haplotype in the Malic Enzyme 2 gene, ME2, increases the risk for IGE in the homozygous state [5].
  • Genotyping was performed for six SNPs and one dinucleotide repeat polymorphism, all located in the ME2 region [1].
  • This technology was made by 10 parts of mannitol and 1 part of ME2 with about 6 microm in average particle size [6].

Biological context of CELSR1

  • A total of 17 allelic variants of CELSR1 was found by sequencing all 35 exons, intron-exon junctions, and the putative promoter region by screening two patients from a large family mainly supporting this locus, and three control subjects in a first step [3].
  • The cadherin gene CELSR1 is specifically expressed in the brain and located on chromosome 22q13.33, a region that has recently been shown to be involved in the etiopathogenesis of familial catatonic schizophrenia [3].
  • Leukocyte malic enzyme-2 (ME2) phenotypes were studied in 313 blood samples from unselected subjects and in 241 human brain tissue samples (postmortem examinations) from the northern part of the GDR [7].
  • In ME2 cells, no modification of the exchange movement was observed during contact inhibition [2].

Associations of CELSR1 with chemical compounds

  • Subsequent evaluation in two tumor models indicated that [125I]V beta ME2 also possessed the highest tumor uptake and selectivity in the adult female rats bearing the estrogen responsive 9,10-dimethyl-1,2-benzanthracene(DMBA)-induced mammary tumors and that this was receptor mediated [8].
  • In normal adult female rats, the iodovinyl analogs of moxestrol (IV beta ME2), and moxestrol-3-O methyl ether (IV beta ME2-3-OMe) demonstrated high uterine uptake (0.296-0.437 and 0.135-0.199%ID-kg/g) and selectivity (10-18:1) over the 6 h time period [8].

Other interactions of CELSR1


  1. Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A., Sander, T. Epilepsia (2005) [Pubmed]
  2. Relationship between intracellular K+ concentrations and K+ fluxes in growing and contact-inhibited cells. Ducouret-Prigent, B., Lelievre, L., Paraf, A., Kepes, A. Biochim. Biophys. Acta (1975) [Pubmed]
  3. Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family. Gross, J., Grimm, O., Ortega, G., Teuber, I., Lesch, K.P., Meyer, J. Psychiatr. Genet. (2001) [Pubmed]
  4. Mom empowerment, too! (ME2): a program for young mothers involved in substance abuse. Baldwin, J.H., Rawlings, A., Marshall, E.S., Conger, C.O., Abbott, K.A. Public health nursing (Boston, Mass.) (1999) [Pubmed]
  5. Genetics of idiopathic generalized epilepsies. Gardiner, M. Epilepsia (2005) [Pubmed]
  6. Physicochemical characterization of meloxicam-mannitol binary systems. Nassab, P.R., Rajkó, R., Szabó-Révész, P. Journal of pharmaceutical and biomedical analysis. (2006) [Pubmed]
  7. Human malic enzyme-2 polymorphism in the GDR. Stöhlmacher, P., Haferland, W. Hum. Hered. (1989) [Pubmed]
  8. Radioiodinated ligands for the estrogen receptor: tissue distribution of 17 alpha-[125I]iodovinylestradiol derivatives in normal and tumor-bearing adult female rats. Hanson, R.N., Franke, L.A., Kaplan, M. International journal of radiation applications and instrumentation. Part B, Nuclear medicine and biology. (1990) [Pubmed]
  9. Identification and characterization of rat Ankrd6 gene in silico. Katoh, M., Katoh, M. Int. J. Mol. Med. (2005) [Pubmed]
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